Genomic variant #0000074598

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(6027252_6029430)_(6048737_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000179 See all 3 reported entries
Variant remarks Insight class: 5
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/+ _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.0? p.0?